Journal articles on the topic '19p13.3'
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Swan, L., and D. Coman. "Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion." Case Reports in Genetics 2018 (2018): 1–5. http://dx.doi.org/10.1155/2018/2492437.
Full textIshikawa, Aki, Keisuke Enomoto, Makiko Tominaga, Toshiyuki Saito, Jun-ichi Nagai, Noritaka Furuya, Kentaro Ueno, Hideaki Ueda, Mitsuo Masuno, and Kenji Kurosawa. "Pure duplication of 19p13.3." American Journal of Medical Genetics Part A 161, no. 9 (July 29, 2013): 2300–2304. http://dx.doi.org/10.1002/ajmg.a.36041.
Full textSgardioli, Ilária C., Elaine Lustosa-Mendes, Ana P. dos Santos, Társis P. Vieira, and Vera L. Gil-da-Silva-Lopes. "A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3." Cytogenetic and Genome Research 156, no. 2 (2018): 80–86. http://dx.doi.org/10.1159/000493283.
Full textRisheg, Hiba, Romela Pasion, Stephanie Sacharow, Virginia Proud, LaDonna Immken, Stuart Schwartz, Jim H. Tepperberg, et al. "Clinical Comparison of Overlapping Deletions of 19p13.3." American Journal of Medical Genetics Part A 161, no. 5 (April 22, 2013): 1110–16. http://dx.doi.org/10.1002/ajmg.a.35923.
Full textSingh, Vertika, Renu Bala, Arijit Chakraborty, Singh Rajender, Sameer Trivedi, and Kiran Singh. "Duplications in 19p13.3 are associated with male infertility." Journal of Assisted Reproduction and Genetics 36, no. 10 (August 16, 2019): 2171–79. http://dx.doi.org/10.1007/s10815-019-01547-1.
Full textAso, Teijiro, Peter Tsai, Tatsuo Kawaguchi, Joan C. Menninger, Shigetaka Kitajima, Yukio Yasukochi, David C. Ward, and Sherman M. Weissman. "Assignment of the Human GTF2F1 Gene to Chromosome 19p13.3." Genomics 16, no. 1 (April 1993): 252–53. http://dx.doi.org/10.1006/geno.1993.1168.
Full textAl-Othman, Abdallah Ahmad, Mir Sadat-Ali, Ahmed Sh Amer, and Dakheel A. Al-Dakheel. "Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls." Asian Spine Journal 11, no. 2 (April 30, 2017): 167–73. http://dx.doi.org/10.4184/asj.2017.11.2.167.
Full textLiaquat, S., R. Riley, G. Massey, and W. T. Gunning. "Unique case of 19p13 syndrome with storage pool disease." American Journal of Clinical Pathology 156, Supplement_1 (October 1, 2021): S104. http://dx.doi.org/10.1093/ajcp/aqab191.221.
Full textDi Blasi, Claudia, Behzad Moghadaszadeh, Claudia Ciano, Tiziana Negri, Alessio Giavazzi, Ferdinando Cornelio, Lucia Morandi, and Marina Mora. "Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy." Annals of Neurology 56, no. 1 (2004): 133–38. http://dx.doi.org/10.1002/ana.20158.
Full textCapela de Matos, Roberto R., Daniela R. Ney Garcia, Moneeb A. K. Othman, Gerson Moura Ferreira, Joana B. Melo, Isabel M. Carreira, Claus Meyer, et al. "A New Complex Karyotype Involving a KMT2A-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia." Cytogenetic and Genome Research 157, no. 4 (2019): 213–19. http://dx.doi.org/10.1159/000499640.
Full textSiggberg, L., P. Olsén, K. Näntö-Salonen, and S. Knuutila. "19p13.3 Aberrations Are Associated with Dysmorphic Features and Deviant Psychomotor Development." Cytogenetic and Genome Research 132, no. 1-2 (2011): 8–15. http://dx.doi.org/10.1159/000320920.
Full textAcierno Jr., James S., Jenna K. Shagoury, Yøusef Bo-Abbas, William F. Crowley Jr., and Stephanie B. Seminara. "A Locus for Autosomal Recessive Idiopathic Hypogonadotropic Hypogonadism on Chromosome 19p13.3." Journal of Clinical Endocrinology & Metabolism 88, no. 6 (June 2003): 2947–50. http://dx.doi.org/10.1210/jc.2003-030423.
Full textKaname, T., T. Miyauchi, A. Kuwano, Y. Matsuda, T. Muramatsu, and T. Kajii. "Mapping basigin (BSG), a member of the immunoglobulin superfamily, to 19p13.3." Cytogenetic and Genome Research 64, no. 3-4 (1993): 195–97. http://dx.doi.org/10.1159/000133573.
Full textJedlicka, A. E., E. W. Taylor, D. A. Meyers, Z. Liu, and R. C. Levitt. "Localization of the highly polymorphic locus D19S120 to 19p13.3 by linkage." Cytogenetic and Genome Research 65, no. 1-2 (1994): 140. http://dx.doi.org/10.1159/000133621.
Full textDescartes, Maria, Fady M. Mikhail, Judith C. Franklin, Tony M. McGrath, and Martina Bebin. "Monosomy1p36.3 and Trisomy 19p13.3 in a Child With Periventricular Nodular Heterotopia." Pediatric Neurology 45, no. 4 (October 2011): 274–78. http://dx.doi.org/10.1016/j.pediatrneurol.2011.06.002.
Full textChan, Vivian, Gardian C. Y. Fong, Keith D. K. Luk, Ben Yip, Miu-Kuen Lee, Man-Sim Wong, David D. S. Lu, and Tai-Kwong Chan. "A Genetic Locus for Adolescent Idiopathic Scoliosis Linked to Chromosome 19p13.3." American Journal of Human Genetics 71, no. 2 (August 2002): 401–6. http://dx.doi.org/10.1086/341607.
Full textYu, Guo-Yun, Michael J. Howell, Matthew J. Roller, Ting-Dong Xie, and Christopher M. Gomez. "Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6." Annals of Neurology 57, no. 3 (2005): 349–54. http://dx.doi.org/10.1002/ana.20371.
Full textArcher, H. L., S. Gupta, S. Enoch, P. Thompson, A. Rowbottom, I. Chua, S. Warren, et al. "Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter." American Journal of Medical Genetics Part A 136A, no. 1 (2005): 38–44. http://dx.doi.org/10.1002/ajmg.a.30774.
Full textFaivre, Laurence, André Mégarbané, Abdulrahman Alswaid, Louise Zylberberg, Noura Aldohayan, Ana Campos-Xavier, Delphine Bacq, et al. "Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2." Human Genetics 110, no. 4 (March 13, 2002): 366–70. http://dx.doi.org/10.1007/s00439-002-0689-3.
Full textAin, Quratul, Sabiha Nazli, Saima Riazuddin, Ateeq-ul Jaleel, S. Amer Riazuddin, Ahmad U. Zafar, Shaheen N. Khan, et al. "The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3." Human Genetics 122, no. 5 (August 10, 2007): 445–50. http://dx.doi.org/10.1007/s00439-007-0418-z.
Full textMatsufuji, Senya, Johji Inazawa, Takaaki Hayashi, Youichi Miyazaki, Tamotsu Ichiba, Akihiro Furusaka, Tamiko Matsufuji, et al. "Assignment of the Human Antizyme Gene (OAZ) to Chromosome 19p13.3 by Fluorescencein SituHybridization." Genomics 38, no. 1 (November 1996): 102–4. http://dx.doi.org/10.1006/geno.1996.0601.
Full textPuvabanditsin, Surasak, Eugene Garrow, Erik Brandsma, Jayshree Savla, Bgee Kunjumon, and Inder Gadi. "Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review." American Journal of Medical Genetics Part A 149A, no. 8 (July 16, 2009): 1782–85. http://dx.doi.org/10.1002/ajmg.a.32972.
Full textOlschwang, S., D. Markie, S. Seal, K. Neale, R. Phillips, S. Cottrell, I. Ellis, et al. "Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3." Journal of Medical Genetics 35, no. 1 (January 1, 1998): 42–44. http://dx.doi.org/10.1136/jmg.35.1.42.
Full textNevado, Julián, Jill A. Rosenfeld, Rocío Mena, María Palomares-Bralo, Elena Vallespín, María Ángeles Mori, Jair A. Tenorio, et al. "PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome." European Journal of Human Genetics 23, no. 12 (April 8, 2015): 1615–26. http://dx.doi.org/10.1038/ejhg.2015.51.
Full textCozen, Wendy, Dalin Li, Maria Timofeeva, Arjan Diepstra, Dennis Hazelett, Manon Delahaye-Sourdeix, Christopher K. Edlund, et al. "A Meta-Analysis Of Hodgkin Lymphoma Reveals 19p13.3 (TCF3) As a Novel Susceptibility Loc." Blood 122, no. 21 (November 15, 2013): 626. http://dx.doi.org/10.1182/blood.v122.21.626.626.
Full textBarber, Kerry E., Christine J. Harrison, Zoe J. Broadfield, Adam R. M. Stewart, Sarah L. Wright, Mary Martineau, Jon C. Strefford, and Anthony V. Moorman. "Molecular cytogenetic characterization ofTCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia." Genes, Chromosomes and Cancer 46, no. 5 (2007): 478–86. http://dx.doi.org/10.1002/gcc.20431.
Full textWagner, John, Laurie A. Gordon, Henry H. Q. Heng, Michel L. Tremblay, and Anne S. Olsen. "Physical Mapping of Receptor Type Protein Tyrosine Phosphatase Sigma (PTPRS) to Human Chromosome 19p13.3." Genomics 38, no. 1 (November 1996): 76–78. http://dx.doi.org/10.1006/geno.1996.0594.
Full textde Smith, Adam J., Mieke M. van Haelst, Richard J. Ellis, Susan E. Holder, Stewart J. Payne, Sugera K. Hashim, Philippe Froguel, and Alexandra I. F. Blakemore. "Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems." American Journal of Medical Genetics Part A 155, no. 5 (April 4, 2011): 1192–95. http://dx.doi.org/10.1002/ajmg.a.33986.
Full textAnwar, Sayeeda, Nusrat Kamal, Rokeya Khanom, Subrota Kumar Roy, Farzana Kabir, and Ramkrishna Saha. "Recurrent Abdominal Pain in Peutz-Jeghers Syndrome: A Case Report." Journal of Bangladesh College of Physicians and Surgeons 37, no. 3 (June 12, 2019): 160–64. http://dx.doi.org/10.3329/jbcps.v37i3.41739.
Full textIida, Aritoshi, Atsushi Takahashi, Min Deng, Yun Zhang, Jing Wang, Naoki Atsuta, Fumiaki Tanaka, et al. "Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians." Neurobiology of Aging 32, no. 4 (April 2011): 757.e13–757.e14. http://dx.doi.org/10.1016/j.neurobiolaging.2010.12.011.
Full textMcCurley, R. Skyler, Adrian Recinos, Anne S. Olsen, Jeffrey C. Gingrich, Dorota Szczepaniak, H. Scott Cameron, Ronald Krauss, and Brent W. Weston. "Physical maps of human α(1,3)fucosyltransferase genes FUT3–FUT6 on chromosomes 19p13.3 and 11q21." Genomics 26, no. 1 (March 1995): 142–46. http://dx.doi.org/10.1016/0888-7543(95)80094-3.
Full textHeuckeroth, Robert O., Paul Kotzbauer, Neal G. Copeland, Debra J. Gilbert, Nancy A. Jenkins, D. B. Zimonjic, N. C. Popescu, Eugene M. Johnson, and Jeffrey Milbrandt. "Neurturin, a Novel Neurotrophic Factor, Is Localized to Mouse Chromosome 17 and Human Chromosome 19p13.3." Genomics 44, no. 1 (August 1997): 137–40. http://dx.doi.org/10.1006/geno.1997.4846.
Full textAcierno, James S., John C. Kennedy, John L. Falardeau, Maire Leyne, Matthew C. Bromley, Matthew W. Colman, Mei Sun, et al. "A Physical and Transcript Map of the MCOLN1 Gene Region on Human Chromosome 19p13.3–p13.2." Genomics 73, no. 2 (April 2001): 203–10. http://dx.doi.org/10.1006/geno.2001.6526.
Full textDutta, Usha R., Vijaya Kumar Pidugu, and Ashwin Dalal. "Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea." Case Reports in Genetics 2012 (2012): 1–5. http://dx.doi.org/10.1155/2012/212065.
Full textPuttagunta, R. "Comparative Maps of Human 19p13.3 and Mouse Chromosome 10 Allow Identification of Sequences at Evolutionary Breakpoints." Genome Research 10, no. 9 (September 1, 2000): 1369–80. http://dx.doi.org/10.1101/gr.145200.
Full textKoppers, Max, Ewout J. N. Groen, Paul W. J. van Vught, Wouter van Rheenen, Esther Witteveen, Michael A. van Es, R. Jeroen Pasterkamp, Leonard H. van den Berg, and Jan H. Veldink. "Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3." Neurobiology of Aging 34, no. 5 (May 2013): 1518.e5–1518.e7. http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.018.
Full textValle, Véronique Della, Maryvonne le Coniat, Michel Soulard, Van Cong Nguyen, Roland Berger, and Christian-Jacques Larsen. "Dual localization of the human gene encoding hnRNP I/PTB protein to chromosomes 19p13.3 and 14q23." Human Genetics 98, no. 2 (July 2, 1996): 210–13. http://dx.doi.org/10.1007/s004390050193.
Full textWang, Z.-J., M. Churchman, I. G. Campbell, W.-H. Xu, Z.-Y. Yan, W. G. McCluggage, W. D. Foulkes, and I. P. M. Tomlinson. "Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours." British Journal of Cancer 80, no. 1-2 (March 26, 1999): 70–72. http://dx.doi.org/10.1038/sj.bjc.6690323.
Full textHou, Wei, Jiaoyang Yin, Ulla Vogel, Zhenxiang Sun, and Duohong Liang. "19p13.3 -GADD45B common variants and 19q13.3- PPP1R13L and 19q13.3- CD3EAP in lung cancer risk among Chinese." Chemico-Biological Interactions 277 (November 2017): 74–78. http://dx.doi.org/10.1016/j.cbi.2017.08.018.
Full textPeddibhotla, Sirisha, Mohamed Khalifa, Frank J. Probst, Jennifer Stein, Leslie L. Harris, Debra L. Kearney, Gail H. Vance, et al. "Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis." American Journal of Medical Genetics Part A 161, no. 12 (October 2, 2013): 2953–63. http://dx.doi.org/10.1002/ajmg.a.35886.
Full textKuroda, Yukiko, Toshiyuki Saito, Jun-Ichi Nagai, Kazumi Ida, Takuya Naruto, Mitsuo Masuno, and Kenji Kurosawa. "Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features." American Journal of Medical Genetics Part A 167, no. 2 (December 8, 2014): 389–93. http://dx.doi.org/10.1002/ajmg.a.36813.
Full textLyon, Sarah M., Darrel Waggoner, Sara Halbach, Erik C. Thorland, Leila Khorasani, and Russell R. Reid. "Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2." Genes & Diseases 2, no. 4 (December 2015): 347–52. http://dx.doi.org/10.1016/j.gendis.2015.09.001.
Full textKlimkowski, Sergio, Mohamed Ibrahim, Juan J. Ibarra Rovira, Mohamed Elshikh, Sanaz Javadi, Albert R. Klekers, Abdelraham A. Abusaif, Ahmed W. Moawad, Kamran Ali, and Khaled M. Elsayes. "Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers." Cancers 13, no. 20 (October 13, 2021): 5121. http://dx.doi.org/10.3390/cancers13205121.
Full textNovikova, Irina, Paushpala Sen, Ann Manzardo, and Merlin Butler. "Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review." Journal of Pediatric Genetics 06, no. 04 (June 2, 2017): 227–33. http://dx.doi.org/10.1055/s-0037-1603650.
Full textChan, Kelvin Y. K., Johannes C. Y. Ching, M. S. Xu, Annie N. Y. Cheung, Shea-Ping Yip, Loretta Y. C. Yam, Sik-To Lai, et al. "Association of ICAM3 Genetic Variant with Severe Acute Respiratory Syndrome." Journal of Infectious Diseases 196, no. 2 (July 15, 2007): 271–80. http://dx.doi.org/10.1086/518892.
Full textNakagawa, Hidewaki, Kumiko Koyama, Toshihiro Tanaka, Yasuo Miyoshi, Hiroshi Ando, Shozo Baba, Masahiro Watatani, Masayuki Yasutomi, Morito Monden, and Yusuke Nakamura. "Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19p13.3." Human Genetics 102, no. 2 (February 23, 1998): 203–6. http://dx.doi.org/10.1007/s004390050678.
Full textTenorio, Jair, Julián Nevado, Antonio González‐Meneses, Pedro Arias, Irene Dapía, Carlos A. Venegas‐Vega, María Calvente, et al. "Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor." Clinical Genetics 97, no. 3 (January 23, 2020): 467–76. http://dx.doi.org/10.1111/cge.13689.
Full textvan Es, Michael A., Jan H. Veldink, Christiaan G. J. Saris, Hylke M. Blauw, Paul W. J. van Vught, Anna Birve, Robin Lemmens, et al. "Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis." Nature Genetics 41, no. 10 (September 6, 2009): 1083–87. http://dx.doi.org/10.1038/ng.442.
Full textKelner, Michael J., and Mark A. Montoya. "Structural Organization of the Human Selenium-Dependent Phospholipid Hydroperoxide Glutathione Peroxidase Gene (GPX4): Chromosomal Localization to 19p13.3." Biochemical and Biophysical Research Communications 249, no. 1 (August 1998): 53–55. http://dx.doi.org/10.1006/bbrc.1998.9086.
Full textRing, Huijun Z., Vida Vameghi-Meyers, Julia M. Nikolic, Hosung Min, Douglas L. Black, and Uta Francke. "Mapping of theKHSRPGene to a Region of Conserved Synteny on Human Chromosome 19p13.3 and Mouse Chromosome 17." Genomics 56, no. 3 (March 1999): 350–52. http://dx.doi.org/10.1006/geno.1998.5725.
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